| Structural highlights
Disease
ADCY5_HUMAN Familial dyskinesia and facial myokymia;Benign hereditary chorea. The disease is caused by variants affecting the gene represented in this entry. The disease is caused by variants affecting the gene represented in this entry.
Function
ADCY5_HUMAN Catalyzes the formation of the signaling molecule cAMP in response to G-protein signaling (PubMed:15385642, PubMed:26206488, PubMed:24700542). Mediates signaling downstream of ADRB1 (PubMed:24700542). Regulates the increase of free cytosolic Ca(2+) in response to increased blood glucose levels and contributes to the regulation of Ca(2+)-dependent insulin secretion (PubMed:24740569).[1] [2] [3] [4]
References
- ↑ Ding Q, Gros R, Gray ID, Taussig R, Ferguson SS, Feldman RD. Raf kinase activation of adenylyl cyclases: isoform-selective regulation. Mol Pharmacol. 2004 Oct;66(4):921-8. PMID:15385642 doi:10.1124/mol.66.4.
- ↑ Chen YZ, Friedman JR, Chen DH, Chan GC, Bloss CS, Hisama FM, Topol SE, Carson AR, Pham PH, Bonkowski ES, Scott ER, Lee JK, Zhang G, Oliveira G, Xu J, Scott-Van Zeeland AA, Chen Q, Levy S, Topol EJ, Storm D, Swanson PD, Bird TD, Schork NJ, Raskind WH, Torkamani A. Gain-of-function ADCY5 mutations in familial dyskinesia with facial myokymia. Ann Neurol. 2014 Apr;75(4):542-9. PMID:24700542 doi:10.1002/ana.24119
- ↑ Hodson DJ, Mitchell RK, Marselli L, Pullen TJ, Gimeno Brias S, Semplici F, Everett KL, Cooper DM, Bugliani M, Marchetti P, Lavallard V, Bosco D, Piemonti L, Johnson PR, Hughes SJ, Li D, Li WH, Shapiro AM, Rutter GA. ADCY5 couples glucose to insulin secretion in human islets. Diabetes. 2014 Sep;63(9):3009-21. PMID:24740569 doi:10.2337/db13-1607
- ↑ Brand CS, Sadana R, Malik S, Smrcka AV, Dessauer CW. Adenylyl Cyclase 5 Regulation by Gbetagamma Involves Isoform-Specific Use of Multiple Interaction Sites. Mol Pharmacol. 2015 Oct;88(4):758-67. doi: 10.1124/mol.115.099556. Epub 2015 Jul , 23. PMID:26206488 doi:http://dx.doi.org/10.1124/mol.115.099556
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